Incidental Mutation 'R9077:Ksr1'
ID 689858
Institutional Source Beutler Lab
Gene Symbol Ksr1
Ensembl Gene ENSMUSG00000018334
Gene Name kinase suppressor of ras 1
Synonyms D11Bhm183e, B-KSR1, D11Bhm184e
MMRRC Submission 068898-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R9077 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 78904266-79037233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78927552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 371 (T371A)
Ref Sequence ENSEMBL: ENSMUSP00000018478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018478] [ENSMUST00000108264] [ENSMUST00000208969] [ENSMUST00000226282]
AlphaFold Q61097
PDB Structure Solution structure of the cysteine-rich C1 domain of Kinase Suppressor of Ras [SOLUTION NMR]
Solution Structure of the Cysteine-Rich C1 Domain of Kinase Suppressor of Ras [SOLUTION NMR]
Solution NMR Structure of the KSR1 CA1-CA1a domain [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000018478
AA Change: T371A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: T371A

DomainStartEndE-ValueType
low complexity region 8 31 N/A INTRINSIC
Pfam:KSR1-SAM 39 166 2.7e-41 PFAM
low complexity region 271 278 N/A INTRINSIC
C1 334 377 5.48e-8 SMART
low complexity region 429 464 N/A INTRINSIC
low complexity region 519 530 N/A INTRINSIC
Pfam:Pkinase_Tyr 563 827 2.3e-48 PFAM
Pfam:Pkinase 563 828 1.5e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108264
AA Change: T371A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: T371A

DomainStartEndE-ValueType
low complexity region 8 31 N/A INTRINSIC
Pfam:KSR1-SAM 39 166 8.9e-51 PFAM
low complexity region 271 278 N/A INTRINSIC
C1 334 377 5.48e-8 SMART
low complexity region 429 464 N/A INTRINSIC
low complexity region 519 530 N/A INTRINSIC
Pfam:Pkinase 563 637 1e-6 PFAM
Pfam:Pkinase_Tyr 563 637 2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208969
AA Change: T296A

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably damaging
Transcript: ENSMUST00000226282
AA Change: T289A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.5%
Validation Efficiency 100% (48/48)
MGI Phenotype PHENOTYPE: Homozygous mutant mice exhibit disorganized hair follicles and a decreased susceptibility to papilloma formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 A G 7: 139,567,552 (GRCm39) V397A probably benign Het
Alkbh3 A G 2: 93,811,925 (GRCm39) V235A probably damaging Het
Arfgef2 A G 2: 166,706,721 (GRCm39) I982V probably damaging Het
Arfgef3 T C 10: 18,500,899 (GRCm39) D1117G possibly damaging Het
Arhgap31 G T 16: 38,422,730 (GRCm39) A1112D probably damaging Het
Arhgef4 T C 1: 34,760,824 (GRCm39) C27R unknown Het
Bzw1 T A 1: 58,438,190 (GRCm39) M90K probably benign Het
Cdk17 T C 10: 93,068,277 (GRCm39) Y345H probably damaging Het
Cip2a A G 16: 48,827,511 (GRCm39) I459V probably benign Het
Cog8 C T 8: 107,779,208 (GRCm39) M356I probably damaging Het
Ctsw T C 19: 5,516,431 (GRCm39) D173G probably benign Het
Dnah6 A T 6: 73,121,029 (GRCm39) C1488* probably null Het
Dnah7a T C 1: 53,741,218 (GRCm39) K13E unknown Het
Eif3f A G 7: 108,539,425 (GRCm39) M232V probably benign Het
Gk5 C A 9: 96,001,634 (GRCm39) T44K probably benign Het
Glrb A G 3: 80,763,217 (GRCm39) F260S probably damaging Het
Glyctk C A 9: 106,032,522 (GRCm39) R497L probably benign Het
Gm10153 G T 7: 141,743,383 (GRCm39) C248* probably null Het
Hand2 A G 8: 57,776,836 (GRCm39) K199E probably damaging Het
Heatr1 T A 13: 12,428,247 (GRCm39) C795S probably benign Het
Il31ra T C 13: 112,670,361 (GRCm39) I342M probably benign Het
Itm2b G T 14: 73,605,865 (GRCm39) D40E probably benign Het
Lctl C A 9: 64,039,241 (GRCm39) probably benign Het
Lpin1 G A 12: 16,591,747 (GRCm39) P827S Het
Lyst T C 13: 13,857,693 (GRCm39) I2494T probably benign Het
Mia2 A G 12: 59,226,760 (GRCm39) N510S possibly damaging Het
Mycbp2 T C 14: 103,469,974 (GRCm39) D1308G probably damaging Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Omt2b T C 9: 78,235,548 (GRCm39) probably null Het
Or2j6 G A 7: 139,980,809 (GRCm39) P50L probably benign Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Or56b1 A G 7: 104,285,618 (GRCm39) T246A probably damaging Het
Pan2 A G 10: 128,148,856 (GRCm39) Y490C probably damaging Het
Pard6g A G 18: 80,160,772 (GRCm39) E295G probably damaging Het
Pcdhb8 T C 18: 37,489,414 (GRCm39) V23A probably damaging Het
Phactr3 A T 2: 177,974,758 (GRCm39) probably benign Het
Pip G A 6: 41,828,388 (GRCm39) S74N probably damaging Het
Plau G A 14: 20,889,949 (GRCm39) E265K probably benign Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Rcor3 C T 1: 191,807,865 (GRCm39) D230N probably damaging Het
Siglec15 A G 18: 78,091,983 (GRCm39) Y73H possibly damaging Het
Spag16 T A 1: 70,532,930 (GRCm39) probably benign Het
Spta1 G T 1: 174,045,170 (GRCm39) D1506Y probably damaging Het
Tacr3 A T 3: 134,635,711 (GRCm39) Y305F probably benign Het
Tcstv7a T C 13: 120,289,885 (GRCm39) M104V probably benign Het
Vmn1r83 G A 7: 12,055,571 (GRCm39) T162M probably damaging Het
Vmn2r116 G T 17: 23,604,956 (GRCm39) D90Y probably benign Het
Wdr76 A G 2: 121,364,608 (GRCm39) N304S probably benign Het
Wee1 G A 7: 109,725,963 (GRCm39) V358I probably damaging Het
Zan G A 5: 137,401,468 (GRCm39) P4084S unknown Het
Other mutations in Ksr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Ksr1 APN 11 78,918,343 (GRCm39) missense probably damaging 1.00
IGL01304:Ksr1 APN 11 78,918,468 (GRCm39) missense probably damaging 1.00
IGL01482:Ksr1 APN 11 78,927,409 (GRCm39) missense probably damaging 1.00
IGL01928:Ksr1 APN 11 78,935,665 (GRCm39) splice site probably null
IGL02025:Ksr1 APN 11 78,912,276 (GRCm39) splice site probably null
IGL02176:Ksr1 APN 11 78,911,617 (GRCm39) missense probably benign 0.00
IGL02374:Ksr1 APN 11 78,919,317 (GRCm39) missense probably benign 0.02
IGL02511:Ksr1 APN 11 78,936,046 (GRCm39) missense possibly damaging 0.55
IGL02563:Ksr1 APN 11 78,935,684 (GRCm39) missense possibly damaging 0.73
IGL02662:Ksr1 APN 11 78,927,551 (GRCm39) missense probably damaging 1.00
IGL02823:Ksr1 APN 11 78,912,229 (GRCm39) missense probably benign 0.35
IGL02879:Ksr1 APN 11 78,965,270 (GRCm39) missense probably damaging 1.00
julius UTSW 11 78,927,320 (GRCm39) critical splice donor site probably null
R0096:Ksr1 UTSW 11 78,929,073 (GRCm39) splice site probably benign
R0096:Ksr1 UTSW 11 78,929,073 (GRCm39) splice site probably benign
R0364:Ksr1 UTSW 11 78,919,851 (GRCm39) splice site probably benign
R0479:Ksr1 UTSW 11 78,916,109 (GRCm39) missense probably damaging 1.00
R0590:Ksr1 UTSW 11 78,935,966 (GRCm39) missense probably damaging 1.00
R0711:Ksr1 UTSW 11 78,929,073 (GRCm39) splice site probably benign
R0743:Ksr1 UTSW 11 78,912,329 (GRCm39) missense possibly damaging 0.79
R0884:Ksr1 UTSW 11 78,912,329 (GRCm39) missense possibly damaging 0.79
R1272:Ksr1 UTSW 11 79,036,904 (GRCm39) nonsense probably null
R1739:Ksr1 UTSW 11 78,938,131 (GRCm39) missense probably damaging 1.00
R1885:Ksr1 UTSW 11 78,927,347 (GRCm39) missense probably damaging 1.00
R1885:Ksr1 UTSW 11 78,911,204 (GRCm39) missense probably null
R1886:Ksr1 UTSW 11 78,911,204 (GRCm39) missense probably null
R2118:Ksr1 UTSW 11 78,936,019 (GRCm39) missense probably benign 0.10
R2127:Ksr1 UTSW 11 78,924,139 (GRCm39) missense probably damaging 1.00
R2939:Ksr1 UTSW 11 78,936,007 (GRCm39) splice site probably null
R4090:Ksr1 UTSW 11 78,918,303 (GRCm39) missense probably damaging 1.00
R4675:Ksr1 UTSW 11 78,965,186 (GRCm39) missense possibly damaging 0.81
R4854:Ksr1 UTSW 11 78,918,528 (GRCm39) missense probably damaging 1.00
R5267:Ksr1 UTSW 11 78,911,251 (GRCm39) missense probably damaging 1.00
R5813:Ksr1 UTSW 11 78,929,024 (GRCm39) missense probably damaging 1.00
R5928:Ksr1 UTSW 11 78,950,545 (GRCm39) missense probably damaging 0.96
R6199:Ksr1 UTSW 11 78,911,267 (GRCm39) missense possibly damaging 0.65
R6346:Ksr1 UTSW 11 78,910,490 (GRCm39) missense possibly damaging 0.93
R6377:Ksr1 UTSW 11 78,927,320 (GRCm39) critical splice donor site probably null
R6885:Ksr1 UTSW 11 78,938,121 (GRCm39) critical splice donor site probably null
R7016:Ksr1 UTSW 11 78,918,362 (GRCm39) missense probably damaging 1.00
R8803:Ksr1 UTSW 11 79,036,882 (GRCm39) missense probably benign 0.02
R8984:Ksr1 UTSW 11 78,931,709 (GRCm39) missense probably damaging 1.00
R8991:Ksr1 UTSW 11 78,936,014 (GRCm39) missense probably benign 0.01
R9056:Ksr1 UTSW 11 78,918,465 (GRCm39) missense possibly damaging 0.78
R9139:Ksr1 UTSW 11 78,911,572 (GRCm39) missense probably benign 0.00
R9308:Ksr1 UTSW 11 78,918,291 (GRCm39) missense probably damaging 1.00
R9447:Ksr1 UTSW 11 78,909,159 (GRCm39) missense unknown
R9455:Ksr1 UTSW 11 78,911,602 (GRCm39) missense possibly damaging 0.92
R9511:Ksr1 UTSW 11 78,924,094 (GRCm39) missense possibly damaging 0.95
U24488:Ksr1 UTSW 11 78,938,267 (GRCm39) missense probably damaging 1.00
Z1088:Ksr1 UTSW 11 78,935,705 (GRCm39) splice site probably null
Z1176:Ksr1 UTSW 11 78,918,426 (GRCm39) missense probably benign 0.04
Z1176:Ksr1 UTSW 11 78,911,577 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- AAAATGGGGCTCTGCTGCTC -3'
(R):5'- TGCTCAGATGGAGGAAGTTCC -3'

Sequencing Primer
(F):5'- TGCTGCTCTGTCCACTGGG -3'
(R):5'- AGTTCCAGGGGATCTGACATC -3'
Posted On 2021-11-19